• Journal of the Korean Society of Radiology
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• v.82 no.5
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• pp.1321-1327
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• 2021

Neurofibromatosis type 1 (NF1) is a relatively common inherited disorder characterized by the formation of neurofibromas, pigmentary abnormalities of the skin, Lisch nodules of the iris, and skeletal abnormalities. Multiple cutaneous neurofibromas are benign nerve sheath tumors and the main manifestation of NF1. Cardiac neurofibroma associated with NF1 is very rare, and few cases have been reported in the literature. Herein, we present the CT and MRI findings of a surgically confirmed left ventricular neurofibroma in a 32-year-old female with NF1.

• Archives of Plastic Surgery
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• v.38 no.3
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• pp.257-262
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• 2011

Purpose: In neurofibromatosis patients, complete surgical excision of the mass is almost impossible and surgical treatment usually consists of multiple serial excisions that only result in a debulking effect. Remnant tumor mass has a gravitational effect on facial soft tissues that leads to sagging of skin and soft tissue, and eventually, facial disfigurement and asymmetry. The purpose of our surgical method is to perform soft tissue lifting with longer lasting effect with less surgical risk of damaging facial nerve and vessels. With external fixation using K-wire or surgical screw, the procedure only called for a short incision length and had additional adhesive properties that enabled anchoring of soft tissue in a lifted position for a longer postoperative period. Methods: A total of 5 neurofibromatosis patients (NF-1) visited our clinic for mass reduction and face lifting. The age of patients ranged from 13 to 42 (mean 28.8 years), and most patients had a long history of multiple excisions in the past. Face lifting was performed in 2 different areas, the periorbital area in 3 patients, and the midface in 2 patients. The materials used in fixation of retaining ligament were K-wire (n=3) and titanium screw (n=2). Results: Follow up period was from 5 month to 3 years and 1 month (mean=2 years and 1 month). All patients conveyed satisfaction with the results and no major complications were reported. The lifting effect lasted for as long as 3 years, and there were no complaints of relapse of soft tissue depression or sagging within the operated area. 1 patient (M/13) needed secondary k-wire insertion and additional mass excision in 1 year and 10 months postoperatively due to tumor growth. In two patients with K-wire fixation, mild dimpling and tenderness were observed in the follow up period, but in about 2 months postoperatively, dimpling was relieved and there was no need for removal of fixating material. Conclusion: Surgical lifting in neurofibromatosis patients can be challenging, for mass excision cannot be done completely and gravitational effect by residual mass can be persistent. External fixation of the retaining ligament in patients with neurofibromatosis can give satisfactory results-for incision length is relatively shorter, and the lifting effect can last longer compared to other various face lifting techniques.

• Clinics in Shoulder and Elbow
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• v.16 no.2
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• pp.135-140
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• 2013

We report a case of recurrent shoulder dislocation and combined proximal humerus fracture in neurofibromatosis type I. A twenty-year-old male patient with known neurofibromatosis type I presented with right shoulder dislocation and proximal humerus fracture following a minor trauma. His injured arm also had large plexiform neurofibromas on the elbow, and the dislocation of the shoulder joint was proven to be recurrent. Bony deformation of the humerus and scapula were revealed on X-ray and computed tomography, as well as multiple neurofibromatic changes of the deltoid and periscapular muscles were noted on magnetic resonance imaging. Open reduction and capsular reconstruction were performed and humeral fracture was stabilized with a reconstruction plate. Satisfactory union and functional result were achieved and the dislocation did not recur until the 7-month followup after the procedure. Recurrent shoulder dislocation and combined proximal humerus fracture in neurofibromatosis type I are rare complications. However, it should still be considered in the orthopaedic evaluation process of the diseases.

• 대한두경부종양학회:학술대회논문집
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• 1992.11a
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• pp.134.1-134.1
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• 1992

• Clinical and Experimental Pediatrics
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• v.64 no.4
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• pp.165-166
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• 2021

• Journal of Korean Neurosurgical Society
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• v.44 no.2
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• pp.91-94
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• 2008

Malignant peripheral nerve sheath tumors (MPNSTs) are very rare tumors. We experienced a case of MPNST in the cervical paraspinal space which was not associated with neurofibromatosis. The tumor located in left C6-7 foramen and compressed C7 root. The tumor was removed through the occipital triangle. We report a case of the primary cerivcal MPNST in a patient who did not have neurofibromatosis-1.

• Journal of Chest Surgery
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• v.29 no.1
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• pp.120-124
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• 1996

We report three cases of posterior mediastinal tumor in Von Recklinghausen's disease on 12-yearsy old boy, 8-years-old girl and 6-years-old boy. Especially the last case was combinded with "Dumbbell" neurilemmoma of cervical spine. In the first case, preoperative CT scan showed a homogeneous large mass In the posterior mediastinum. But the mass did not show intraspinal invasion on the chest MRI scan. In the last case, cervical spine CT with thecal enhancement shows dumbbell shaped neurofibroma, compressed spinal cord and thecal sac In three cases we removed all the masses successfully and the patients were discharged safely without significant problem.t problem.

• Journal of Chest Surgery
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• v.12 no.3
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• pp.165-169
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• 1979

Neurofibromatosis [Von Recklinghausen`s disease] is a rare Mendelian dominant disease, which shows multiple generalized symptoms and signs at various sites [Ex Skin, Bone, Nerve, Endocrine, Mediastinum rarely Lung, etc.]. We experienced one case of neurofibromatosis which has typical skin lesions [cafe-au-lait, multiple nodules, axillary freckling] with neurofibrosarcoma [malignant change from mediastinal lesion]. Patient was admitted our department because of recently developed severe dyspnea which was probably due to main tracheal compression by mediastinal neurofibrosarcoma. After successful removal of mediastinal mass dyspnea disappeared completely. Patient`s postoperative course was uneventful, and the patient was discharged 14 days after operation.

• The Korean Journal of Pain
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• v.26 no.2
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• pp.160-163
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• 2013

Malignant peripheral nerve sheath tumors (MPNSTs) are very rare sarcomas derived from various cells in the peripheral nerve sheath. Malignant peripheral nerve sheath tumors have a known association with neurofibromatosis type 1. Diagnosis of MPNSTs is difficult in patients with chronic pain, when MPNST occurs at an overlapping area of chronic pain. Therefore, the diagnosis can be missed unless clinicians pay attention to the possibility of this disease. Here in, we report a case of concurrent malignant peripheral nerve sheath tumor with complex regional pain syndrome type 1. A 44-year female patient, who was diagnosed with complex regional pain syndrome (CRPS) type 1 in her left ankle, visited our clinic because of aggravated pain. The cause of the aggravated pain was revealed as concurrent MPNST in the left common peroneal nerve territory, which overlapped the site of pain from CRPS.

• Journal of Chest Surgery
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• v.44 no.5
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• pp.383-386
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• 2011

A 46-year-old man presented with a lateral thoracic meningocele associated with cutaneous neurofibromatosis type I and kyphoscoliosis of the thoracic spine upon medical examination. In the majority of such cases, these meningoceles remain asymptomatic, but surgery is indicated when giant or symptomatic cysts are present. The large thoracic meningocele was successfully extirpated through the transthoracic approach in combination with lumbar puncture and cerebrospinal drainage for decompression of the cyst.